holoprosencephaly 5
MONDO:0012322Mondo
Findings
No curated finding names holoprosencephaly 5 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Holoprosencephaly associated with mutations in the ZIC2 gene.
Definition from the Mondo Disease Ontology (MONDO:0012322), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Congenital onset · Fetal onset
HPO, annotations 2026-09-02
Features
29 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Arachnoid cystHPOHP:0100702
- 1 of 1 reported patient
- CamptodactylyHPOHP:0012385
- 1 of 1 reported patient
- Cerebellar atrophyHPOHP:0001272
- 1 of 1 reported patient
- Global developmental delayHPOHP:0001263
- 1 of 1 reported patient
- HyperreflexiaHPOHP:0001347
- 1 of 1 reported patient
- Lateral ventricle dilatationHPOHP:0006956
- 1 of 1 reported patient
- Persistent asymmetrical tonic neck reflexHPOHP:0032549
Show the remaining 17
- Anteverted naresHPOHP:0000463
- 22 of 30 reported patients
- Deep philtrumHPOHP:0002002
- 14 of 30 reported patients
- Narrow foreheadHPOHP:0000341
- 14 of 30 reported patients
- MacrotiaHPOHP:0000400
- 12 of 30 reported patients
- Depressed nasal bridgeHPOHP:0005280
- 11 of 31 reported patients
- Alobar holoprosencephalyHPOHP:0006988
- 27 of 83 reported patients · Congenital onset
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- ZIC2HGNC:12873
- Definitive · Ambry Genetics · Autosomal dominant · 2018
- Definitive · G2P · Autosomal dominant · 2015
- Strong · Genomics England PanelApp · Autosomal dominant · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
Other names
4 names
Resolves to: holoprosencephaly 5
- Also called
- holoprosencephaly caused by mutation in ZIC2holoprosencephaly type 5HPE5ZIC2 holoprosencephaly